Aliases for LOC111674463 Gene
External Ids for LOC111674463 Gene
- Entrez Gene: 111674463
This region represents the promoter and proximal regulatory regions of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It includes multiple DNase I hypersensitive sites (DHSs), and enhancer, silencer and transcriptional cis-regulatory elements. An enhancer corresponding to DHS-3.4kb shows cooperative activity with the -35 kb and intron 23 CFTR enhancers. The core promoter is regulated by cyclic AMP and protein kinase A, which stimulate binding of cAMP responsive element binding protein 1 (CREB1), activating transcription factors (ATF1 and ATF2), and CCAAT/enhancer binding protein (C/EBP). Positive regulation by interleukin 1 beta (IL-1beta) is mediated by binding of nuclear factor kappa B (NF-kB). Other known transcription factors include cut like homeobox 1 (CUX1 or CDP/cut), which negatively regulates promoter activity, nuclear transcription factor Y (NF-Y), YY1 transcription factor, serum response factor (SRF), and the transcription factors SP1 and USF2 (upstream transcription factor 2), which cooperate in CFTR promoter activation. Naturally-occurring polymorphisms in this sequence may affect transcription factor binding sites and influence promoter activity. This region participates in long-range interactions with enhancers located within a larger topologically associating domain (TAD) that extends both upstream and downstream of the locus. These long-range interactions suggest complex regulation of expression of this promoter in different cell types. [provided by RefSeq, Nov 2018]
GeneCards Summary for LOC111674463 Gene
LOC111674463 (CFTR Promoter Region) is a Biological Region gene. Diseases associated with LOC111674463 include Cystic Fibrosis.